K32T (p.Lys32Thr) variant of COL1A2 (Collagen alpha-2(I) chain)
K32T (p.Lys32Thr) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K32T (p.Lys32Thr) variant details
- p.Lys32Thr
- gnomAD 7-94398395-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.22
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available